Thromb Haemost 1998; 80(01): 49-51
DOI: 10.1055/s-0037-1615137
Rapid Communication
Schattauer GmbH

Prevalence of 20210 A Allele of the Prothrombin Gene in Venous Thromboembolism Patients

Christophe Leroyer
1   Department of Internal Medicine and Chest Diseases
,
Bernard Mercier
2   Blood Transfusion Center
,
Emmanuel Oger
1   Department of Internal Medicine and Chest Diseases
,
Eric Chenu
1   Department of Internal Medicine and Chest Diseases
,
Jean-François Abgrall
3   Department of Haematology, CHRU de la Cavale Blanche, Brest, France
,
Claude Férec
2   Blood Transfusion Center
,
Dominique Mottier
1   Department of Internal Medicine and Chest Diseases
› Institutsangaben
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Publikationsverlauf

Received 13. November 1997

Accepted after revision 30. März 1998

Publikationsdatum:
08. Dezember 2017 (online)

Summary

Background. The 20210 A allele variation in the 3’ -untranslated region of the prothrombin gene was recently identified as a risk factor as regards deep venous thrombosis. Aim. To assess the frequency of the variation in unselected patients with a proven venous thromboembolism (VTE). Methods. The presence of the prothrombin variation was determined in all consecutive patients referred from July 1994 to August 1997 for a clinical suspicion of VTE, and in whom the diagnosis was confirmed. A control group consisted of bone marrow volunteer donors. Results. Of the 366 patients included, 17 (4.6%) were carriers of the 20210 A allele (95% CI, 2.4% to 6.7%). The mutation was present in 1.0% of the 400 controls. Odds ratio for having VTE in the presence of the 20210 A allele was 4.8 (95% CI, 1.5 to 19.8). Forty-six (12.5%) patients had the mutation of the factor V gene and five (1.4%) patients shared both mutations. After excluding the carriers of the factor V mutation, odds ratio for having VTE in the presence of the 20210 A allele was 3.7 (95% CI, 1.1 to 13.6). Mean age at admission as well as mean age of the first VTE episode were both significantly higher in patients free from the two mutations studied, as compared to carriers of the 20210 A allele (p = 0.04 and 0.01, respectively). Conclusion. Our findings in a large series of patients (1) confirm the 20210 A allele prothrombin gene as a risk factor for VTE. (2) suggest that its association with the factor V Leiden is not uncommon.

 
  • References

  • 1 Kierkegaard A. Incidence of acute deep vein thrombosis in two districts. A phlebographic study.. Acta Chir Scand 1980; 146: 267-9.
  • 2 Egeberg O. Inherited antithrombin III deficiency causing thrombophilia.. Thromb Diath Haemorrh 1965; 13: 516-30.
  • 3 Aiach M, Gandrille S, Emmerich J. A review of mutations causing deficiencies of antithrombin, protein C and protein S deficiencies.. Thromb Haemost 1995; 74: 81-9.
  • 4 Bertina R, Koeleman B, Koster T, Rosendaal F, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C.. Nature 1994; 369: 64-7.
  • 5 Poort S, Rosendaal F, Reitsma P, Bertina R. A common genetic variation in the 3’-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis.. Blood 1996; 88: 3698-703.
  • 6 Leroyer C, Mercier B, Escoffre M, Férec C, Mottier D. Factor V Leiden prevalence in venous thromboembolism patients.. Chest 1997; 111: 1603-6.
  • 7 Hillarp A, Zöller B, Svensson P, Dahlbäck B. The 20210 A allele of the prothrombin gene is a comon risk factor among swedish outpatients with verified deep venous thrombosis.. Thromb Haemost 1997; 78: 990-2.
  • 8 Alhenc-Gelas M, Le Cam-Duchez V, Emmerich J, Frebourg T, Fiessinger JN, Borg JY, Aiach M. The 20210 A allele of the prothrombin gene is not frequently associated with the factor V Arg506 to Gln mutation in thrombophilic families.. Blood 1997; 90: 1711.